Canonical Allele Identifier: CA7131235

Gene: TGM1

Linked Data

• ClinVar Variation Id: 372534
• ClinVar RCV Id: RCV000413014 ; RCV000599792 ; RCV000762928
• dbSNP Id: rs121918731
• ExAC: 14:24728975 G / C
• gnomAD v2: 14-24728975-G-C
• gnomAD v3: 14-24259769-G-C
• gnomAD v4: 14-24259769-G-C
• MyVariant Identifiers: chr14:g.24728975G>C (hg19) ; chr14:g.24259769G>C (hg38)
• PubMed: PMID:16968736 ; PMID:19212342 ; PMID:19863506 ; PMID:19890349 ; PMID:27025581

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259769G>C , CM000676.2:g.24259769G>C	GRCh38
NC_000014.8:g.24728975G>C , CM000676.1:g.24728975G>C	GRCh37
NC_000014.7:g.23798815G>C	NCBI36
NG_007150.1:g.8398C>G
NG_007150.2:g.8398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.919C>G MANE Select	ENSP00000206765.6:p.Arg307Gly
ENST00000206765.10:c.919C>G	ENSP00000206765.6:p.Arg307Gly
ENST00000544573.5:c.-28-1381C>G	ENSP00000439446.1:n.-28-1381C>G
ENST00000559136.1:c.-9C>G	ENSP00000453337.1:n.-9C>G
NM_000359.2:c.919C>G	NP_000350.1:p.Arg307Gly
NM_000359.3:c.919C>G MANE Select	NP_000350.1:p.Arg307Gly